About cysts of the renal medulla, congenital
What is cysts of the renal medulla, congenital?
Autosomal dominant interstitial kidney disease describes a group of diseases affecting solely the proper function of the kidney and having the following characteristics: They are inherited in an autosomal dominant manner; kidney disease develops, and dialysis or kidney transplant is required some time between the 4th and 7th decade of life; and several types of the disease are associated with elevated uric acid concentrations in blood and gout, which usually starts in the teenage years. Not all family members are affected by gout, but many are.
There has been a lot of confusion with regards to different names given to these conditions. This has created confusion for patients and doctors alike.
The term medullary cystic kidney disease is sometimes used to describe this condition. However, many, if not most, individuals with this disease do not have medullary cysts, so this name is being used less frequently. Some doctors still use this term.
The term familial juvenile hyperuricemic nephropathy is also used. "Familial" refers to the fact that the disease is inherited. "Juvenile" refers to the fact that it is first noticed frequently in childhood. "Hyperuricemic" refers to the fact that many patients have high blood uric acid levels (this causes gout). "Nephropathy" refers to the fact that this is a kidney disease.
Autosomal dominant interstitial kidney disease currently includes the following disorders. It is likely that additional forms of this disease will be indentified.
Uromodulin associated kidney disease is the most common form of this condition. It is caused by a mutation in a gene producing a protein called uromodulin. This protein is only made in the kidney. The mutation causes affected individuals to develop gout, frequently in their teenage years, and progressive kidney disease.
Autosomal dominant interstitial kidney disease due to renin mutations is caused by mutations in the gene producing a protein called renin. Affected individuals usually develop anemia in childhood. Often, their blood potassium levels are mildly elevated, and their blood uric acid levels are also elevated. These individuals also suffer from gout frequently.
Autosomal dominant interstitial kidney disease of unknown genetic cause is the term used to describe families with this disease in whom the cause is not known. This condition is sometimes called medullary cystic kidney disease type 1. These individuals usually have chronic kidney disease but do not have gout. Researchers are now trying to find the cause of this disease.
What are the symptoms for cysts of the renal medulla, congenital?
The first symptoms of Medullary Sponge Kidney typically blood in the urine, stone formation or signs of a urinary infection such as excessive urination (polyuria) and/or burning and Pain while urinating. In some affected individuals, calcium stones may form in the kidneys (nephrolithiasis). These stones can cause low back Pain in the area of the kidneys (renal colic) and Pain in the lower back and lower abdomen. A prominent feature of Medullary Sponge Kidney is the excretion of small stones with the urinary flow. The passage of these stones can be profoundly painful. In a small number of cases, repeated urinary infections and damage to the kidneys may occur if stones become sufficiently large enough to block the flow of urine to the bladder (renal obstruction).
The most common complication of Medullary Sponge Kidney involves the loss of the kidneys’ capacity to concentrate waste products in the urine (filtration). This is due to the abnormal widening (dilatation) of the collecting tubes deep within the kidneys. Impaired filtration by the kidneys can result in the excessive accumulation of acidic waste products in the blood and body fluids (metabolic acidosis). Rare complications of Medullary Sponge Kidney may include severe damage to the kidneys (i.e., renal tubular acidosis) and kidney failure (i.e., end-stage renal disease).
What are the causes for cysts of the renal medulla, congenital?
The exact cause of Medullary Sponge Kidney is not known and most cases occur sporadically for no apparent reason. Some cases are thought to run in families (familial) and may be inherited as an autosomal dominant genetic trait. However, this inheritance pattern has not been proven. Some studies have suggested there may be a a possible relationship between overactivity of the parathyroid gland (Hyperparathyroidism) and Medullary Sponge Kidney.
What are the treatments for cysts of the renal medulla, congenital?
The diagnosis of Medullary Sponge Kidney Disease may be confirmed by a thorough clinical evaluation and specialized X-ray studies (i.e., intravenous urography) that reveal the presence of abnormal widening (dilatation) or stretching of collecting ducts, cyst formations or kidney stones. CT scan (computerized tomography) is another imaging study that is effective in revealing calcifications that may later form kidney stones. In some affected individuals, urinary filtration rates (glomerular) may be measured and found to be reduced.
The kidney stones associated with Medullary Sponge Kidney are composed of calcium oxalate, calcium phosphate, and other calcium salts (urolithiasis). If normal levels of calcium are excreted, affected individuals may be given oral phosphate therapy. Individuals with Medullary Sponge Kidney should take sufficient fluids in order to excrete about 2 liters of urine each day. Those people with Medullary Sponge Kidney who have too much calcium in their urine (hypercalciuria) may benefit from long-term therapy with thiazide diuretics as well as a high fluid intake.
In some people with Medullary Sponge Kidney, a low calcium diet may help t. prevent the formation of kidney stones and thereby reduce the complications of urinary obstruction. Patients should be evaluated at least on a yearly basis, including routine urinalysis and urine cultures. Many patients with Medullary Sponge Kidney have recurrent urinary tract infections and may require antibiotic drugs to help prevent future infections (prophylaxis).
Stones in the collecting system may be treated with electromagnetic shock waves (extracorporeal shock wave lithotripsy [ESWL]). During this procedure, the patient is placed in a large tub of water and shock waves (high energy) are delivered by a special machine (ellipsoid reflector) directly to the area of the kidney stones. The stones are broken into small pieces and excreted with the urine. It has not been determined if ESWL is beneficial in treating stones in the kidney tubules.
Genetic counseling may be of benefit for people with Medullary Sponge Kidney if the disease appears in other family members. In rare cases of kidney failure, renal dialysis may be required. Other treatment is symptomatic and supportive.
What are the risk factors for cysts of the renal medulla, congenital?
Medullary Sponge Kidney is a rare disorder that affects slightly more women than men. It is thought to occur in 1 in 1,000 to 5,000 people in the United States. Although the symptoms of Medullary Sponge Kidney may begin at any age, they usually develop during adolescence or in adults between the ages of 30 and 50 years. Approximately 13 percent of all people who develop kidney stones are eventually diagnosed with Medullary Sponge Kidney. Medullary Sponge Kidney may also develop in people with Beckwith-Wiedemann Syndrome.
Is there a cure/medications for cysts of the renal medulla, congenital?
Renal medulla, congenital also known as Medullary sponge kidney, is a kidney disease.
There is no specific treatment for Renal medulla, congenital. It is centered around managing urinary tract infections and kidney stones.
1. The standard treatment for urinary tract infections is antibiotics.
2. Treatment for kidney stones depends mainly on stone size. If the stone is small in size, it shall pass on its own.
3. However, to help move the stone along, your provider may recommend drinking more fluids.
4. You may also receive pain medications or medications to relax your ureter muscles.
5. Ureters carry urine from your kidneys to your bladder.
Larger stones usually require more treatment, such as:
1. Shock wave lithotripsy: High-energy shock waves are given to the patient in a large tub of water with the help of a machine called an ellipsoidal reflector because of which stones are broken into small pieces. The broken stone fragments then pass through your urine and out of your body.
2. Ureteroscopy: A thin tube called a ureteroscope is used to reach the stones. This tool allows your provider to remove small stones or break up larger stones with a laser.
3. Percutaneous nephrolithotomy: It is a minimally invasive surgery that allows your provider to break up kidney stones and suction them out through a small incision in your back.
4. In some cases, renal dialysis is also advised.
5. You must drink enough water to excrete 2 liters of urine daily. High fluid intake and long-term therapy with thiazide diuretics may help in too much calcium in the urine.
Burning or painful urination,Pain in the back, lower abdomen, or groin,Cloudy, dark, or bloody urine,Foul-smelling urine,Fever and chills,Vomiting
Cystic dilatation of the collecting tubules in one or both kidneys
Antibiotics and pain medications